Results 21 to 30 of about 1,233,281 (160)

Technical Note: The Use of RNA-interference as a Tool to Find Proteins Involved in Melanosome Formation or Transport [PDF]

, 2009
Melanosomes are lysosome-related organelles that produce and transport the pigment melanin within melanocytes. Mutations in proteins required for melanosome transport and formation lead to a range of pigmentation defects, manifested at the cellular level
Daniela Rotin, Eva M. Amsen, Eva Amsen
core   +1 more source

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Platelets, 2021
Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome‐related organelles. Ten genes are associated with different forms of HPS.
Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean-Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler   +8 more
doaj   +1 more source

Novel Hermansky–Pudlak Syndrome Type I Variant in Hermansky–Pudlak Syndrome [PDF]

Indian Journal of Respiratory Care
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency due to platelet dysfunction, and organ pigment accumulation (ceroid lipofuscin in tissues).
Sandesh S, Sanjay S, Harsha H
doaj   +1 more source

Hermansky–Pudlak Syndrome a Case Report [PDF]

, 2015
We report a case of Hermansky –Pudlak syndrome in a 34 year old lady who was born of non consanguineous marriage The incidence of HPS is highest in Puerto Rico.There are increasing reports of HPS among Indians.
Grace, Mary, P, Arun, V K, Shameer, Akhilesh, Akhilesh   +3 more
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In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids

Stem Cell Reports, 2019
Summary: It has been challenging to generate in vitro models of alveolar lung diseases, as the stable culture of alveolar type 2 (AT2) cells has been difficult.
Yohei Korogi, Shimpei Gotoh, Satoshi Ikeo, Yuki Yamamoto, Naoyuki Sone, Koji Tamai, Satoshi Konishi, Tadao Nagasaki, Hisako Matsumoto, Isao Ito, Toyofumi F. Chen-Yoshikawa, Hiroshi Date, Masatoshi Hagiwara, Isao Asaka, Akitsu Hotta, Michiaki Mishima, Toyohiro Hirai   +16 more
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Clinical and genetic aspects of albinism [PDF]

Клиническая офтальмология, 2021
V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko Research Center for Medical Genetics, Moscow, Russian Federation Albinism is a clinically and genetically heterogeneous group of hereditary ...
V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko   +4 more
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Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells

Cell Reports, 2019
Summary: The pathogenesis of idiopathic pulmonary fibrosis (IPF), an intractable interstitial lung disease, is unclear. Recessive mutations in some genes implicated in Hermansky-Pudlak syndrome (HPS) cause HPS-associated interstitial pneumonia (HPSIP), a
Alexandros Strikoudis, Anna Cieślak, Lucas Loffredo, Ya-Wen Chen, Nina Patel, Anjali Saqi, David J. Lederer, Hans-Willem Snoeck   +7 more
doaj   +1 more source

A family history of Hermansky–Pudlak syndrome complicated with pulmonary fibrosis: a case series and review

Respirology Case Reports, 2021
The Hermansky–Pudlak syndrome (HPS) is a rare genetic disorder. We report three cases from a family of 12 siblings, with six albinos, of whom four and the father had pulmonary fibrosis (PF).
Katiuska Liendo Martinez, Fernando Pedraza, Marta Fuentes Alonso, Luis Puente Maestu, Carla Rodriguez Naranjo, Javier De Miguel‐Diez   +5 more
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Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1

Stem Cell Research, 2021
Induced pluripotent stem cells (iPSCs) were generated from blood outgrowth endothelial cells (BOECs) obtained from a healthy donor and from a patient diagnosed with Hermansky Pudlak Syndrome type 2 (HPS2), caused by compound heterozygous AP3B1 mutations (
Cathelijn E.M. Aarts, Ellie Karampini, Tatjana Wüst, Steven Webbers, Eszter Varga, Judy Geissler, Jan Voorberg, Marieke von Lindern, Ruben Bierings, Emile van den Akker, Taco W. Kuijpers   +10 more
doaj   +1 more source

Hermansky Pudlak Syndrome Associated Pulmonary Fibrosis

Online Journal of Health & Allied Sciences, 2022
Hermansky-Pudlak syndrome (HPS) was first described by Dr. Frantisek Hermansky and Dr. Paulus Pudlak in 1959. HPS is relatively common in Puerto Rico, in the north-western region of the island.
Navakumar Manickam, Kannan Gopalan, Vandhana Manoharan, Seethalakshmi Ganga Vellaisamy   +3 more
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